Fig. 2: Transcriptional differences of distinct cell types in the PFC and STP of fetuses with DS.

a Number of DEGs of PFC and STP across different cell types. b Number of DEGs of PFC and STP across different cell types. Differential expression was assessed using a two-sided likelihood ratio test based on MAST, with covariate adjustment for library size, mitochondrial gene content, and sex. P-values were corrected for multiple comparisons using the BH method. c Number of overlapping DEGs of PFC and STP across different cell types. d Expression heatmap of chr21-related DEGs in PFC and STP across different cell types. DEGs were assessed using a two-sided likelihood ratio test based on MAST. P-values were corrected for multiple comparisons using the BH method. *FDR < 0.05, **FDR < 0.01, ***FDR < 0.001. e Venn diagram showing the number of DEGs in ExNs and InNs of PFC at fetal, young, and old stages. f Venn diagram showing the number of DEGs in ExNs and InNs of PFC between fetal brain and organoids from patients with DS29. UMAP projection of ExNs (g) and InNs (h) in two query datasets of DS-derived brain organoid cultures to our in vivo ExNs and InNs reference map. Colors represent the assigned subpopulations, and intensity represents the prediction score for each query cell. Bar plots show the proportions of query cells mapped to our in vivo ExNs and InNs reference. i Venn diagram showing the number of DEGs between PFC and peripheral blood30. Source data are provided as a Source Data file.